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O60779

- S19A2_HUMAN

UniProt

O60779 - S19A2_HUMAN

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Protein

Thiamine transporter 1

Gene
SLC19A2, THT1, TRMA
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

High-affinity transporter for the intake of thiamine.

GO - Molecular functioni

  1. folic acid transporter activity Source: UniProtKB
  2. thiamine transmembrane transporter activity Source: UniProtKB
  3. thiamine uptake transmembrane transporter activity Source: BHF-UCL

GO - Biological processi

  1. folic acid transport Source: GOC
  2. small molecule metabolic process Source: Reactome
  3. thiamine-containing compound metabolic process Source: Reactome
  4. thiamine transmembrane transport Source: GOC
  5. thiamine transport Source: UniProtKB
  6. vitamin metabolic process Source: Reactome
  7. water-soluble vitamin metabolic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

ReactomeiREACT_11117. Vitamin B1 (thiamin) metabolism.
SABIO-RKO60779.

Protein family/group databases

TCDBi2.A.48.2.1. the reduced folate carrier (rfc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Thiamine transporter 1
Short name:
ThTr-1
Short name:
ThTr1
Alternative name(s):
Solute carrier family 19 member 2
Thiamine carrier 1
Short name:
TC1
Gene namesi
Name:SLC19A2
Synonyms:THT1, TRMA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:10938. SLC19A2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2828Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei29 – 4618Helical; Reviewed predictionAdd
BLAST
Topological domaini47 – 7226Extracellular Reviewed predictionAdd
BLAST
Transmembranei73 – 9119Helical; Reviewed predictionAdd
BLAST
Topological domaini92 – 998Cytoplasmic Reviewed prediction
Transmembranei100 – 11819Helical; Reviewed predictionAdd
BLAST
Topological domaini119 – 12810Extracellular Reviewed prediction
Transmembranei129 – 14921Helical; Reviewed predictionAdd
BLAST
Topological domaini150 – 16516Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei166 – 18520Helical; Reviewed predictionAdd
BLAST
Topological domaini186 – 1916Extracellular Reviewed prediction
Transmembranei192 – 20817Helical; Reviewed predictionAdd
BLAST
Topological domaini209 – 28577Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei286 – 31025Helical; Reviewed predictionAdd
BLAST
Topological domaini311 – 33727Extracellular Reviewed predictionAdd
BLAST
Transmembranei338 – 35417Helical; Reviewed predictionAdd
BLAST
Topological domaini355 – 3639Cytoplasmic Reviewed prediction
Transmembranei364 – 38017Helical; Reviewed predictionAdd
BLAST
Topological domaini381 – 3866Extracellular Reviewed prediction
Transmembranei387 – 40923Helical; Reviewed predictionAdd
BLAST
Topological domaini410 – 41910Cytoplasmic Reviewed prediction
Transmembranei420 – 44324Helical; Reviewed predictionAdd
BLAST
Topological domaini444 – 45512Extracellular Reviewed predictionAdd
BLAST
Transmembranei456 – 47924Helical; Reviewed predictionAdd
BLAST
Topological domaini480 – 49718Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB
  2. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]: An autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti93 – 931D → H in TRMA. 1 Publication
VAR_010249
Natural varianti143 – 1431S → F in TRMA. 1 Publication
VAR_010250
Natural varianti172 – 1721G → D in TRMA. 1 Publication
Corresponds to variant rs28937595 [ dbSNP | Ensembl ].
VAR_010248

Keywords - Diseasei

Deafness, Diabetes mellitus, Disease mutation

Organism-specific databases

MIMi249270. phenotype.
Orphaneti49827. Thiamine-responsive megaloblastic anemia syndrome.
PharmGKBiPA35825.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 497497Thiamine transporter 1PRO_0000178663Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine1 Publication
Glycosylationi63 – 631N-linked (GlcNAc...) Reviewed prediction
Glycosylationi314 – 3141N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Acetylation, Glycoprotein

Proteomic databases

MaxQBiO60779.
PaxDbiO60779.
PRIDEiO60779.

PTM databases

PhosphoSiteiO60779.

Expressioni

Tissue specificityi

Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung.

Gene expression databases

ArrayExpressiO60779.
BgeeiO60779.
CleanExiHS_SLC19A2.
GenevestigatoriO60779.

Organism-specific databases

HPAiHPA006119.
HPA016599.

Interactioni

Protein-protein interaction databases

BioGridi115811. 3 interactions.
IntActiO60779. 1 interaction.
STRINGi9606.ENSP00000236137.

Structurei

3D structure databases

ProteinModelPortaliO60779.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG241030.
HOVERGENiHBG054198.
InParanoidiO60779.
KOiK14610.
OMAiCGYFQVI.
PhylomeDBiO60779.
TreeFamiTF313684.

Family and domain databases

InterProiIPR002666. Folate_carrier.
IPR016196. MFS_dom_general_subst_transpt.
IPR028338. ThTr-1.
[Graphical view]
PANTHERiPTHR10686. PTHR10686. 1 hit.
PfamiPF01770. Folate_carrier. 1 hit.
[Graphical view]
PIRSFiPIRSF028739. Folate_carrier. 1 hit.
PIRSF500794. Thiamine_transporter_1. 1 hit.
SUPFAMiSSF103473. SSF103473. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O60779-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MDVPGPVSRR AAAAAATVLL RTARVRRECW FLPTALLCAY GFFASLRPSE    50
PFLTPYLLGP DKNLTEREVF NEIYPVWTYS YLVLLFPVFL ATDYLRYKPV 100
VLLQGLSLIV TWFMLLYAQG LLAIQFLEFF YGIATATEIA YYSYIYSVVD 150
LGMYQKVTSY CRSATLVGFT VGSVLGQILV SVAGWSLFSL NVISLTCVSV 200
AFAVAWFLPM PQKSLFFHHI PSTCQRVNGI KVQNGGIVTD TPASNHLPGW 250
EDIESKIPLN MEEPPVEEPE PKPDRLLVLK VLWNDFLMCY SSRPLLCWSV 300
WWALSTCGYF QVVNYTQGLW EKVMPSRYAA IYNGGVEAVS TLLGAVAVFA 350
VGYIKISWST WGEMTLSLFS LLIAAAVYIM DTVGNIWVCY ASYVVFRIIY 400
MLLITIATFQ IAANLSMERY ALVFGVNTFI ALALQTLLTL IVVDASGLGL 450
EITTQFLIYA SYFALIAVVF LASGAVSVMK KCRKLEDPQS SSQVTTS 497
Length:497
Mass (Da):55,400
Last modified:January 24, 2001 - v2
Checksum:i87A993E2B6FBFE96
GO
Isoform 2 (identifier: O60779-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     69-269: Missing.

Show »
Length:296
Mass (Da):32,858
Checksum:iA8C5CDFF6D54540C
GO

Sequence cautioni

The sequence BAG64936.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti93 – 931D → H in TRMA. 1 Publication
VAR_010249
Natural varianti143 – 1431S → F in TRMA. 1 Publication
VAR_010250
Natural varianti172 – 1721G → D in TRMA. 1 Publication
Corresponds to variant rs28937595 [ dbSNP | Ensembl ].
VAR_010248

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei69 – 269201Missing in isoform 2. VSP_036467Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF160812 mRNA. Translation: AAF15129.1.
AJ238413 Genomic DNA. Translation: CAB50771.1.
AJ237724 mRNA. Translation: CAB50770.1.
AF135488 mRNA. Translation: AAD45985.1.
AF158233 Genomic DNA. Translation: AAD51280.1. Sequence problems.
AF160186 Genomic DNA. Translation: AAD51283.1. Sequence problems.
AF160756 Genomic DNA. Translation: AAD54242.1.
AF153330 mRNA. Translation: AAD43534.1.
AF272359 mRNA. Translation: AAK54468.1.
AK304021 mRNA. Translation: BAG64936.1. Different initiation.
AK313779 mRNA. Translation: BAG36517.1.
AK316465 mRNA. Translation: BAH14836.1.
AL021068 Genomic DNA. Translation: CAI19780.1.
AL021068 Genomic DNA. Translation: CAI19782.1.
CH471067 Genomic DNA. Translation: EAW90843.1.
CH471067 Genomic DNA. Translation: EAW90846.1.
BC018514 mRNA. Translation: AAH18514.1.
CCDSiCCDS1280.1. [O60779-1]
RefSeqiNP_008927.1. NM_006996.2. [O60779-1]
UniGeneiHs.30246.

Genome annotation databases

EnsembliENST00000236137; ENSP00000236137; ENSG00000117479. [O60779-1]
ENST00000367804; ENSP00000356778; ENSG00000117479. [O60779-2]
GeneIDi10560.
KEGGihsa:10560.
UCSCiuc001gge.4. human. [O60779-1]
uc001ggf.4. human. [O60779-2]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF160812 mRNA. Translation: AAF15129.1 .
AJ238413 Genomic DNA. Translation: CAB50771.1 .
AJ237724 mRNA. Translation: CAB50770.1 .
AF135488 mRNA. Translation: AAD45985.1 .
AF158233 Genomic DNA. Translation: AAD51280.1 . Sequence problems.
AF160186 Genomic DNA. Translation: AAD51283.1 . Sequence problems.
AF160756 Genomic DNA. Translation: AAD54242.1 .
AF153330 mRNA. Translation: AAD43534.1 .
AF272359 mRNA. Translation: AAK54468.1 .
AK304021 mRNA. Translation: BAG64936.1 . Different initiation.
AK313779 mRNA. Translation: BAG36517.1 .
AK316465 mRNA. Translation: BAH14836.1 .
AL021068 Genomic DNA. Translation: CAI19780.1 .
AL021068 Genomic DNA. Translation: CAI19782.1 .
CH471067 Genomic DNA. Translation: EAW90843.1 .
CH471067 Genomic DNA. Translation: EAW90846.1 .
BC018514 mRNA. Translation: AAH18514.1 .
CCDSi CCDS1280.1. [O60779-1 ]
RefSeqi NP_008927.1. NM_006996.2. [O60779-1 ]
UniGenei Hs.30246.

3D structure databases

ProteinModelPortali O60779.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115811. 3 interactions.
IntActi O60779. 1 interaction.
STRINGi 9606.ENSP00000236137.

Chemistry

BindingDBi O60779.
ChEMBLi CHEMBL3079.
GuidetoPHARMACOLOGYi 1015.

Protein family/group databases

TCDBi 2.A.48.2.1. the reduced folate carrier (rfc) family.

PTM databases

PhosphoSitei O60779.

Proteomic databases

MaxQBi O60779.
PaxDbi O60779.
PRIDEi O60779.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000236137 ; ENSP00000236137 ; ENSG00000117479 . [O60779-1 ]
ENST00000367804 ; ENSP00000356778 ; ENSG00000117479 . [O60779-2 ]
GeneIDi 10560.
KEGGi hsa:10560.
UCSCi uc001gge.4. human. [O60779-1 ]
uc001ggf.4. human. [O60779-2 ]

Organism-specific databases

CTDi 10560.
GeneCardsi GC01M169433.
GeneReviewsi SLC19A2.
HGNCi HGNC:10938. SLC19A2.
HPAi HPA006119.
HPA016599.
MIMi 249270. phenotype.
603941. gene.
neXtProti NX_O60779.
Orphaneti 49827. Thiamine-responsive megaloblastic anemia syndrome.
PharmGKBi PA35825.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG241030.
HOVERGENi HBG054198.
InParanoidi O60779.
KOi K14610.
OMAi CGYFQVI.
PhylomeDBi O60779.
TreeFami TF313684.

Enzyme and pathway databases

Reactomei REACT_11117. Vitamin B1 (thiamin) metabolism.
SABIO-RK O60779.

Miscellaneous databases

ChiTaRSi SLC19A2. human.
GeneWikii SLC19A2.
GenomeRNAii 10560.
NextBioi 40077.
PROi O60779.
SOURCEi Search...

Gene expression databases

ArrayExpressi O60779.
Bgeei O60779.
CleanExi HS_SLC19A2.
Genevestigatori O60779.

Family and domain databases

InterProi IPR002666. Folate_carrier.
IPR016196. MFS_dom_general_subst_transpt.
IPR028338. ThTr-1.
[Graphical view ]
PANTHERi PTHR10686. PTHR10686. 1 hit.
Pfami PF01770. Folate_carrier. 1 hit.
[Graphical view ]
PIRSFi PIRSF028739. Folate_carrier. 1 hit.
PIRSF500794. Thiamine_transporter_1. 1 hit.
SUPFAMi SSF103473. SSF103473. 2 hits.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of the human thiamine transporter, a member of the folate transporter family."
    Dutta B., Huang W., Molero M., Kekuda R., Leibach F.H., Devoe L.D., Ganapathy V., Prasad P.D.
    J. Biol. Chem. 274:31925-31929(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Placenta.
  2. "Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness."
    Labay V., Raz T., Baron D., Mandel H., Williams H., Barrett T., Szargel R., McDonald L., Shalata A., Nosaka K., Gregory S., Cohen N.
    Nat. Genet. 22:300-304(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANT TRMA ASP-172.
  3. "The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter."
    Fleming J.C., Tartaglini E., Steinkamp M.P., Schorderet D.F., Cohen N., Neufeld E.J.
    Nat. Genet. 22:305-308(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
    Tissue: Skeletal muscle.
  4. "Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome."
    Diaz G.A., Banikazemi M., Oishi K., Desnick R.J., Gelb B.D.
    Nat. Genet. 22:309-312(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Fetal brain.
  5. Subramanian V.S., Chatterjee N.S., Fleming J.C., Neufeld E.J., Said H.M.
    Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Colon.
  6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Colon, Testis and Trachea.
  7. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Eye.
  10. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. "The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families."
    Raz T., Labay V., Baron D., Szargel R., Anbinder Y., Barrett T., Rabl W., Viana M.B., Mandel H., Baruchel A., Cayuela J.-M., Cohen N.
    Hum. Mutat. 16:37-42(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS TRMA HIS-93 AND PHE-143.

Entry informationi

Entry nameiS19A2_HUMAN
AccessioniPrimary (citable) accession number: O60779
Secondary accession number(s): B2R9H0
, B4E1X4, Q8WV87, Q9UBL7, Q9UKJ2, Q9UN31, Q9UN43
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 24, 2001
Last modified: September 3, 2014
This is version 134 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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